Simone Mandelstam

<i>KCNQ2</i> encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

Sarah Weckhuysen, Simone Mandelstam, Arvid Suls et al. · Annals of Neurology · 2011 · 514 citations

Medicine, Genetics, Neurology +17

Dominant‐negative effects of <i>KCNQ2</i> mutations are associated with epileptic encephalopathy

Gökce Orhan, Merle Bock, Dorien Schepers et al. · Annals of Neurology · 2013 · 275 citations

Life Sciences, Molecular Genetics, Neuroscience +17

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

Richard J. Leventer, Anna Jansen, Daniela T. Pilz et al. · Brain · 2010 · 260 citations · Full text

Medicine, Neurology, Neuroscience +17

Mutations in mammalian target of rapamycin regulator <i>DEPDC5</i> cause focal epilepsy with brain malformations

Ingrid E. Scheffer, Sarah E. Heron, Brigid M. Regan et al. · Annals of Neurology · 2014 · 222 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Extending the <i>KCNQ2</i> encephalopathy spectrum

Sarah Weckhuysen, Vanja Ivanović, Rik Hendrickx et al. · Neurology · 2013 · 220 citations · Full text

Life Sciences, Genetics, Neurology +16